TY  - JOUR
A1  - Wolking, Stefan
A1  - Schulz, Herbert
A1  - Nies, Anne T,
A1  - McCormack, Mark
A1  - Schäffeler, Elke
A1  - Auce, Pauls
A1  - Avbersek, Andreja
A1  - Becker, Felicitas
A1  - Klein, Karl Martin
A1  - Krenn, Martin
A1  - Møller, Rikke S.
A1  - Nikanorova, Marina
A1  - Weckhuysen, Sarah
A1  - Cavalleri, Gianpiero L.
A1  - Delanty, Norman
A1  - Depondt, Chantal
A1  - Johnson, Michael R.
A1  - Koeleman, Bobby P. C.
A1  - Kunz, Wolfram S.
A1  - Marson, Anthony G.
A1  - Sander, Josemir W.
A1  - Sills, Graeme J.
A1  - Striano, Pasquale
A1  - Zara, Federico J.
A1  - Zimprich, Fritz
A1  - Weber, Yvonne G.
A1  - Krause, Roland
A1  - Sisodiya, Sanjay M.
A1  - Schwab, Matthias
A1  - Sander, Thomas
A1  - Lerche, Holger
T1  - Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
T2  - Pharmacogenomics
N2  - Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). Materials & methods: We conducted a genome-wide association study (GWAS) of 3.3 million autosomal SNPs in 893 European subjects with GGE – responsive or nonresponsive to lamotrigine, levetiracetam and valproic acid. Results: Our GWAS of AED response revealed suggestive evidence for association at 29 genomic loci (p <10-5) but no significant association reflecting its limited power. The suggestive associations highlight candidate genes that are implicated in epileptogenesis and neurodevelopment. Conclusion: This first GWAS of AED response in GGE provides a comprehensive reference of SNP associations for hypothesis-driven candidate gene analyses in upcoming pharmacogenetic studies.
KW  - antiepileptic drugs
KW  - genetic generalized epilepsy
KW  - GWAS
KW  - lamotrigine
KW  - levetiracetam
KW  - pharmacoresistance
KW  - valproic acid
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54717
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-547170
SN  - 1744-8042
SN  - 1462-2416
VL  - 21
IS  - 5
SP  - 325
EP  - 335
PB  - Future Medicine
CY  - London
ER  -